ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
Get Identifier
Gene: TBXAS1
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
ENSP00000498271.1:p.Asp299_Ile300del
ENST00000652056.1:c.896_901del
ENST00000652056.1:c.[896_901del;903C>A]
ENST00000652056.1:c.[896_901del;903C=]
ENST00000652056.1:c.[896_901del;903C>G]
ENST00000652056.1:c.[896_901del;903C>T]
ENST00000652056.1:c.[896_901del;903_905de...